Inherited disorders of calcium and parathyroid homeostasis may cause hypercalcemia, elevated or inappropriately normal parathyroid hormone concentrations, nephrolithiasis, reduced bone mineral density, or incidentally detected biochemical abnormalities.

This panel includes genes associated with familial hypocalciuric hypercalcemia, inherited forms of primary hyperparathyroidism, multiple endocrine neoplasia syndromes, parathyroid tumor predisposition, and other genetic disorders that may present with hypercalcemia or abnormal parathyroid hormone regulation.

This panel is recommended for patients with early-onset, recurrent, familial, or otherwise unexplained hypercalcemia and/or hyperparathyroidism, particularly when distinguishing familial hypocalciuric hypercalcemia from other inherited causes is clinically important.